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Search for Variation information by Variation ID:

Please input a variation ID (e.g., vg0722097923 , STR0500036000 ).

Detailed information for vg0202017706:

Variant ID: vg0202017706 (JBrowse)Variation Type: SNP
Chromosome: chr02Position: 2017706
Reference Allele: AAlternative Allele: G
Primary Allele: ASecondary Allele: G

Inferred Ancestral Allele : A (evidence from allele frequency in Oryza rufipogon: A: 1.00, others allele: 0.00, population size: 126. )

Flanking Sequence (100 bp) in Reference Genome:


TGACGTCATCATCTATGAATTACCACTACCCTGGTTAATTACTCCGTTAATTAATTTTGTCAAGGTAACAGCGGCGTGGCGGCGCGACCAAGCTATTCCC[A/G]
GTGGCCGCATCTGCGCCATCCAGCCCACTACCAATGCTACTGTCCTCCAATCAAACCGGCTCATTGTTGCTAAGAAACTAGTAAGTCAGCTGCAAACATA

Reverse complement sequence

TATGTTTGCAGCTGACTTACTAGTTTCTTAGCAACAATGAGCCGGTTTGATTGGAGGACAGTAGCATTGGTAGTGGGCTGGATGGCGCAGATGCGGCCAC[T/C]
GGGAATAGCTTGGTCGCGCCGCCACGCCGCTGTTACCTTGACAAAATTAATTAACGGAGTAATTAACCAGGGTAGTGGTAATTCATAGATGATGACGTCA

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 80.20% 19.70% 0.13% 0.00% NA
All Indica  2759 66.60% 33.20% 0.18% 0.00% NA
All Japonica  1512 99.80% 0.20% 0.00% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 47.90% 51.80% 0.34% 0.00% NA
Indica II  465 52.70% 47.10% 0.22% 0.00% NA
Indica III  913 90.80% 9.10% 0.11% 0.00% NA
Indica Intermediate  786 60.80% 39.10% 0.13% 0.00% NA
Temperate Japonica  767 99.90% 0.10% 0.00% 0.00% NA
Tropical Japonica  504 99.80% 0.20% 0.00% 0.00% NA
Japonica Intermediate  241 99.60% 0.40% 0.00% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 87.80% 11.10% 1.11% 0.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0202017706 A -> G LOC_Os02g04530.1 missense_variant ; p.Ser1348Gly; MODERATE nonsynonymous_codon ; S1348G Average:96.057; most accessible tissue: Minghui63 panicle, score: 99.541 unknown unknown DELETERIOUS 0.00

Effects Predicted by Deep Convolutional Neural Networks

For each variant, we constructed two sequences that contain the variation site and the sequence around it, differing only in the variation site. We then used Basenji to predict the chromatin accessibility of each tissue for the two sequences, respectively, and scored the effect of the variant by comparing the changes in chromatin accessibility corresponding to the two genotypes in the 1 kb region around the variation site. The effect score was defined as the logarithmic ratio of the predicted chromatin accessibility of the alternative genotype to the value of the reference genotype.

Var ID Ref Alt Root (RT) Young Leaf (YL) Flag Leaf (FL) Young Panicle (YP) Lemma & Palea (LP) Stamen & Pistil (SP)
vg0202017706 A G -0.04 -0.03 -0.02 0.0 -0.02 -0.02

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg0202017706 NA 4.97E-06 mr1648_2 Ind_All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0202017706 1.72E-06 1.72E-06 mr1651_2 Ind_All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0202017706 NA 8.35E-06 mr1669_2 Ind_All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0202017706 3.79E-06 NA mr1833_2 All YES Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0202017706 7.25E-06 7.26E-06 mr1833_2 Ind_All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251
vg0202017706 NA 4.06E-06 mr1984_2 All Not Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251